CORNEAL ARCUS IN ALPORT'S SYNDROME

RICHARD M. CHAVIS, M.D.

Chicago, IllinoL·

AND

T E D GROSHONG, M.D.

Columbia, Missouri

In 1927, Alport1 described a hereditary re­nal disease, clinically indistinguishable from chronic glomerulonephritis with deafness. Ocular findings have since been associated with hereditary chronic nephritis, including anterior and posterior cataracts, spheropha-kia, and lenticonus. This report documents arcus juvenilis in a patient with hereditary nephritis.

CASE REPORT

This 13-year-old white boy was first seen be­cause of a history of fatigue, listlessness, albuminu-ria, and nocturia of five years' duration. He had observed occasional "brown urine." Examination showed that he was thin, chronically ill appearing with sallow skin color and small stature for chrono­logic age. The venous hematocrit was 28%, BUN 47 mg/100 ml and serum creatinine 1.6 mg/100 ml. The urine sediment contained red blood cells and albumin, as well as red blood cell casts. Lipoprotein electrophoresis, serum cholesterol and triglycérides, and urinary amino acid excretion were normal. In­travenous pyelography showed a decrease in the size of both kidneys and poor excretory function. Audiometry, consistent with sensorineural hearing loss, demonstrated bilateral decrease in air and bone conduction from 10-20 to 50-60 db beginning at 1000 cps. Renal biopsy showed chronic interstitial inflammation with fibrosis and tubular dilatation, multiple small interstitial calcifications, and hyalini-zation of glomeruli. Between 13 and 19 years of age, the patient experienced a deterioration of renal function with BUN rising to 80 mg/100 ml, serum creatinine rising to 4.6 mg/100 ml, and creatinine clearance falling to 10 ml/min/1.73 M.1 Serum lip-ids remained normal.

From the Department of Ophthalmology and the Department of Pediatrics, University of Mis­souri Columbia Medical Center, Columbia, Missouri. This study was partially supported by Public Health Service Training Grant AM-05110.

Reprint requests to Richard M. Chavis, M.D., Department of Ophthalmology, Illinois Eye and Ear Infirmary, 185S W. Taylor Street, Chicago, Illinois 60612.

An older sister with nerve deafness died at 18 years of age with what was said to have been kid­ney disease. Audiometric and renal function of all other family members (mother, father, sister, and two brothers) were assessed. The patients father revealed a decrease of audiometric function of 0-10 db to 35-40 db beginning at 1000 cps. A five-year-old brother was found to have albuminuria and mi­croscopic hematuria. There were no abnormalities among other family members. Ophthalmic evalua­tion of the patient and his father revealed 1 mm whitish infiltrates concentric to the corneal edge. The infiltrates were separated from the corneal edge by a small clean line of cornea, and on slit-lamp examinations, were limited to the region of Bowman's membrane. They did not have the glis­tening white-dot appearance of cystine crystals. The remainder of the family had no evidence of arcus senilis. There were no lenticular abnormalities found in the patient, his father, or other members of the family.

DISCUSSION

Hereditary nephritis may demonstrate great variability of expression in different generations. Some family members demon­strate ocular, auditory, and renal findings, while in other members the findings are lim­ited to one or two of the three systems.2

Renal pathology includes interstitial in­flammation and fibrosis, tubular atrophy, proliferation and hyalinization of glomeruli, and in a minority of patients, interstitial foam cells.3 In the presence of neural deaf­ness in two generations, the patient and his father, and with evidence of chronic nephri­tis in three members of the family, the pa­tient's biopsy findings established the diag­nosis of hereditary nephritis.

The incidence of ocular lesions in Alport's disease may be as high as 2Q%.* Most of these lesions are of the lens and its capsule. The most frequent finding is anterior or pos­terior lenticonus. Other ocular findings in-

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elude spherophakia, subcapsular and nuclear cataracts, and rupture of the lens capsule. Isolated arcus senilis has been reported in 17% of normal subjects in the 20-30 year age group, most often in the region of Des-cemet's membrane.5

Arcus senilis (juvenilis) has been de­scribed in two patients with chronic nephritis —a 54-year-old woman and her 20-year-old son.4 In the latter patient the arcus was asso­ciated with anterior lenticonus. It was con­cluded that in spite of a previous report of arcus senilis associated with anterior lentico­nus, the finding was a chance association. With the present observation providing the second family to demonstrate arcus senilis in the presence of hereditary nephritis, it is probable that this constitutes an additional ocular abnormality in Alport's syndrome. The mechanism of inheritance of nephritis remains unsettled. In the family we have de­scribed, the pattern was that of autosomal dominance with variable genetic penetrance, the latter explained by the variable ability of

a particular gene complex to manifest its effects.

SUMMARY

An additional ophthalmic findings associ­ated with hereditary nephritis is arcus juven­ilis. Arcus, accompanied by documented neu-rosensory hearing loss, was observed in a pa­tient and his father. A sibling was possibly affected, but the remainder the family had no ophthalmic abnormalities.

REFERENCES

1. Alport, A. C. : Hereditary familial congenital hemorrhagic nephritis. Brit. Med. J. 1 :S04, 1927.

2. Puriel, P. : Familial hereditary nephropathy (Alport's syndrome). Am. J. Med. 49:753, 1970.

3. Kaufman, D. B., McNitosh, R. M., Smith, F. G., and Vernier, R. C. : Diffuse familial nephropa­thy : A clinical pathological study. J. Pediat. 77:37, 1970.

4. Crawfurd, M. D., and Toghill, P. J. : Alport's Syndrome of hereditary nephritis and deafness. Quart. J. Med. 37 :S63, 1968.

5. Duke-Elder, S. : Diseases of the outer eye. Part I. Conjunctiva. In System of Ophthalmology, vol. 8. St. Louis, C. V. Mosby, 1964, p. 873.

OPHTHALMIC MINIATURE

Even mathematicians are found who affirm that we judge of the direc­tion of an object, by the line in which the several rays falling upon the retina come to the eye. They forget that the rays strike a mere point of the retina; and that this point can have no direction by itself. The obliq­uity of incidence of the ray cannot be estimated by means of this point alone; rays of all degree of obliquity are converging towards it. Do not the same mathematicians, in the very first lessons of their science, re­quire as the definition of a line—that it shall be drawn through two points at least?

Where are the two points at which a ray can affect the nerve, so as to indicate the direction of the line in which it approaches the eye? The cor­nea, or the humours of the eye, are not sensible to the passage of the ray.

Sir Charles Bell, F.R.S. The Hand, 1852